Aliases for GSG1 Gene

Aliases for GSG1 Gene

  • Germ Cell Associated 1 2 3 5
  • Germ Cell-Specific Gene 1 Protein 3 4
  • Testicular Secretory Protein Li 20 3
  • MGC3146 2
  • GSG1 5

External Ids for GSG1 Gene

Previous GeneCards Identifiers for GSG1 Gene

  • GC12M012968
  • GC12M013381
  • GC12M013136
  • GC12M013127
  • GC12M013237
  • GC12M013007

Summaries for GSG1 Gene

GeneCards Summary for GSG1 Gene

GSG1 (Germ Cell Associated 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include RNA polymerase binding. An important paralog of this gene is GSG1L.

UniProtKB/Swiss-Prot Summary for GSG1 Gene

  • May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum.

Additional gene information for GSG1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSG1 Gene

Genomics for GSG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GSG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J013096 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 608.1 +3.6 3595 7.3 CREB1 CTCF PRDM10 ZNF629 TFE3 RFX1 ZNF692 ETV6 FOXA1 STAT3 GSG1 LOC105369666 HTR7P1 EMP1 CDKN1B piR-41525-112 FAM234B
GH12J013095 Promoter/Enhancer 0.8 EPDnew ENCODE dbSUPER 600.4 +7.9 7853 0.6 MAFF MAFK GSG1 LOC105369666 piR-41525-112 FAM234B
GH12J013104 Enhancer 0.6 FANTOM5 dbSUPER 600.7 -0.9 -941 0.2 SPI1 ZNF664 GSG1 EMP1 HSALNG0089433 FAM234B
GH12J013193 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -99.4 -99409 19.5 CTCF PRDM10 ZNF300 FOXA1 PRDM1 ZIC2 REST RAD21 TRIM22 YY1 EMP1 HTR7P1 MIR614 GSG1 DDX47 GPRC5D-AS1 ENSG00000255621 HEBP1 ENSG00000221611 LOH12CR2
GH12J013171 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.8 -70.2 -70197 5.4 CREB1 TEAD4 RFX1 IKZF2 RCOR1 YY1 CEBPA EED CEBPB RUNX3 EMP1 GSG1 piR-38423-011 lnc-FAM234B-1 HSALNG0089434
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSG1

Top Transcription factor binding sites by QIAGEN in the GSG1 gene promoter:
  • Bach1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a

Genomic Locations for GSG1 Gene

Genomic Locations for GSG1 Gene
chr12:13,083,532-13,103,683
(GRCh38/hg38)
Size:
20,152 bases
Orientation:
Minus strand
chr12:13,236,471-13,256,630
(GRCh37/hg19)
Size:
20,160 bases
Orientation:
Minus strand

Genomic View for GSG1 Gene

Genes around GSG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSG1 Gene

Proteins for GSG1 Gene

  • Protein details for GSG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2KHT4-GSG1_HUMAN
    Recommended name:
    Germ cell-specific gene 1 protein
    Protein Accession:
    Q2KHT4
    Secondary Accessions:
    • Q8N4M3
    • Q8NBR4
    • Q8NBS0
    • Q8NBT1
    • Q96LP9
    • Q96SI6
    • Q9BUY4

    Protein attributes for GSG1 Gene

    Size:
    349 amino acids
    Molecular mass:
    39248 Da
    Quaternary structure:
    • Interacts with PAPOLB.
    SequenceCaution:
    • Sequence=AAH01796.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH33854.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GSG1 Gene

neXtProt entry for GSG1 Gene

Post-translational modifications for GSG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GSG1 Gene

Domains & Families for GSG1 Gene

Gene Families for GSG1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for GSG1 Gene

InterPro:
Blocks:
  • GSG1-like
ProtoNet:

Suggested Antigen Peptide Sequences for GSG1 Gene

GenScript: Design optimal peptide antigens:
  • Germ cell-specific gene 1 protein (F1T0A0_HUMAN)
  • Germ cell-specific gene 1 protein (F1T0A1_HUMAN)
  • Germ cell-specific gene 1 protein (GSG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2KHT4

UniProtKB/Swiss-Prot:

GSG1_HUMAN :
  • Belongs to the GSG1 family.
Family:
  • Belongs to the GSG1 family.
genes like me logo Genes that share domains with GSG1: view

Function for GSG1 Gene

Molecular function for GSG1 Gene

UniProtKB/Swiss-Prot Function:
May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum.

Phenotypes From GWAS Catalog for GSG1 Gene

Gene Ontology (GO) - Molecular Function for GSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0070063 RNA polymerase binding IEA --
genes like me logo Genes that share ontologies with GSG1: view
genes like me logo Genes that share phenotypes with GSG1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GSG1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSG1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GSG1 Gene

Localization for GSG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSG1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein. Note=Colocalizes with PAPOLB in the endoplasmic reticulum. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSG1 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 3
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GSG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSG1 Gene

Pathways & Interactions for GSG1 Gene

PathCards logo

SuperPathways for GSG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSG1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GSG1 Gene

Drugs & Compounds for GSG1 Gene

No Compound Related Data Available

Transcripts for GSG1 Gene

mRNA/cDNA for GSG1 Gene

16 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSG1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSG1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d
SP1: - - - - - -
SP2: - -
SP3: - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP7: - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: - - -
SP11: - - - - - - -
SP12:
SP13:

Relevant External Links for GSG1 Gene

GeneLoc Exon Structure for
GSG1

Expression for GSG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GSG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSG1 Gene

This gene is overexpressed in Testis (x50.2).

Protein differential expression in normal tissues from HIPED for GSG1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GSG1 Gene



Protein tissue co-expression partners for GSG1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSG1

SOURCE GeneReport for Unigene cluster for GSG1 Gene:

Hs.240053

Evidence on tissue expression from TISSUES for GSG1 Gene

  • Eye(4.7)
  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with GSG1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSG1 Gene

Orthologs for GSG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GSG1 30 31
  • 98.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GSG1 30 31
  • 85.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GSG1 30 31
  • 82.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gsg1 30 17 31
  • 81.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gsg1 30
  • 81.21 (n)
Oppossum
(Monodelphis domestica)
Mammalia GSG1 31
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GSG1 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GSG1 30 31
  • 69.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GSG1 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490751 30
  • 63.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii GSG1 31
  • 21 (a)
OneToOne
Species where no ortholog for GSG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GSG1 Gene

ENSEMBL:
Gene Tree for GSG1 (if available)
TreeFam:
Gene Tree for GSG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GSG1: view image

Paralogs for GSG1 Gene

Paralogs for GSG1 Gene

(1) SIMAP similar genes for GSG1 Gene using alignment to 9 proteins:

  • GSG1_HUMAN
  • F1T0A0_HUMAN
  • F1T0A1_HUMAN
  • F5GYH0_HUMAN
  • F5H0V9_HUMAN
  • F5H134_HUMAN
  • F8W8T6_HUMAN
  • G3XAB9_HUMAN
  • J3KNJ9_HUMAN
genes like me logo Genes that share paralogs with GSG1: view

Variants for GSG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSG1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11546332 - p.Gly67Val
rs2306765 - p.Phe39Leu

Additional dbSNP identifiers (rs#s) for GSG1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GSG1 Gene

Variant ID Type Subtype PubMed ID
esv2745567 CNV deletion 23290073
nsv832333 CNV gain 17160897

Variation tolerance for GSG1 Gene

Residual Variation Intolerance Score: 82.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSG1 Gene

Disorders for GSG1 Gene

Additional Disease Information for GSG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for GSG1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GSG1 Gene

Publications for GSG1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for GSG1 Gene

Sources for GSG1 Gene